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Author Details

Petra Pennekamp
University Hospital Muenster
1998
58
31
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
35613303Crosstalk between cilia and autophagy: implication for human diseases.Autophagy2023
37516247Primary ciliary dyskinesia.Presse Med2023
37892643Mapping the Most Common Founder Variant in <i>RSPH9</i> That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs.J Clin Med2023
35202559Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.Ann Am Thorac Soc2022
35773805The ERN-LUNG Population Registry: Aims, Software-Implementation and First Results.Stud Health Technol Inform2022
36303540Identification of a novel founder variant in <i>DNAI2</i> cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula.Front Genet2022
35983540The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN.ERJ Open Res2022
32917769Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies.J Med Genet2021
33561200Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.Mol Hum Reprod2021
33635866Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.PLoS Genet2021
34042874The Registry Data Warehouse in the European Reference Network for Rare Respiratory Diseases - Background, Conception and Implementation.Stud Health Technol Inform2021
31545650<i>SPEF2-</i> and <i>HYDIN</i>-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.Am J Respir Cell Mol Biol2020
33139725CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.Nat Commun2020
32494577Registries and collaborative studies for primary ciliary dyskinesia in Europe.ERJ Open Res2020
31094706Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.J Clin Invest2019
31638833Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of <i>DNAH5</i> in Humans and Mice.Circ Genom Precis Med2019
31630787De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.Am J Hum Genet2019
29727693Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.Am J Hum Genet2018
30148830Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.PLoS Genet2018
30471718Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.Am J Hum Genet2018
28543983Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.Hum Mutat2017
29257953Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways.Dev Cell2017
27061115Lmbrd1 expression is essential for the initiation of gastrulation.J Cell Mol Med2016
26487561Autophagy Induces Prosenescent Changes in Proximal Tubular S3 Segments.J Am Soc Nephrol2016
27486780TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.Am J Hum Genet2016
26777464Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.Hum Mutat2016
26909801DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.Am J Respir Cell Mol Biol2016
25589952Situs inversus and ciliary abnormalities: 20 years later, what is the connection?Cilia2015
26387594Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.Am J Hum Genet2015
26373788Ciliary function and motor protein composition of human fallopian tubes.Hum Reprod2015
25504577Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer.Hum Mutat2015
24573392Renal tubular Notch signaling triggers a prosenescent state after acute kidney injury.Am J Physiol Renal Physiol2014
25192045CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.Am J Hum Genet2014
25186273Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.Eur Respir J2014
24747639Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.Nat Genet2014
23354437The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.Nat Genet2013
24055112Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.Am J Hum Genet2013
23849778ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.Am J Hum Genet2013
23872636DYX1C1 is required for axonemal dynein assembly and ciliary motility.Nat Genet2013
23891469ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.Am J Hum Genet2013
22983710Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2.Science2012
21244227Ultrastructural characterization of mouse embryonic stem cell-derived oocytes and granulosa cells.Stem Cells Dev2011
21982831Focal adhesion kinase signaling mediates acute renal injury induced by ischemia/reperfusion.Am J Pathol2011
21654156Bcar3 is expressed in sertoli cells and germ cells of the developing testis in mice.Sex Dev2011
21710549An allelic ladder based upon reference alleles for mtDNA SNP analysis using the SNaPshot technique.Electrophoresis2011
21059792Unexpected island effects at an extreme: reduced Y chromosome and mitochondrial DNA diversity in Nias.Mol Biol Evol2011
20499247qPCR and mtDNA SNP analysis of experimentally degraded hair samples and its application in forensic casework.Int J Legal Med2010
20798252Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.Clin J Am Soc Nephrol2010
18945944Increased expression of secreted frizzled-related protein 4 in polycystic kidneys.J Am Soc Nephrol2009
18048422Overexpression of PKD2 in the mouse is associated with renal tubulopathy.Nephrol Dial Transplant2008
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Collaborators

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University Hospital Muenster
Co-authored papers 21
Claudius Werner
Universitatsklinikum Munster
Co-authored papers 19
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Release 1.2